Keywords: Glutaric aciduria type 1; Glutaric acid; Reversible brain atrophy;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: glutaric aciduria type 1; newborn screening; nystagmus; optic atrophy; Taiwan;
Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene
Keywords: Glutaric aciduria type 1; GCDH gene mutation; Prenatal diagnosis; Compound heterozygous gene mutation;
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8Â year journey from pilot to current program
Keywords: DBS; dried blood spot; ESI/MS/MS; electrospray ionization-tandem mass spectrometry; LC/MS/MS; liquid chromatography-tandem mass spectrometry; FAOD; fatty acid oxidation disorder; FPR; false positive rate; IEM; Inborn Errors of Metabolism; NBS; newborn scr
The peripartum management of a patient with glutaric aciduria type 1 ★
Keywords: Cesarean Section; Glutaric aciduria type 1; Metabolic disorders; Pregnancy; Neuraxial anesthesia
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx
Keywords: Amino acid transport, arginine; Blood-brain barrier; Dystonia; Glutaric aciduria type 1; Lysine;
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans
Keywords: GCDH; glutaryl-CoA dehydrogenase; GA 1; glutaric acidaemia type 1; GA; glutaric acid; 3-OHGA; 3 hydroxyglutaric acid; GC-MS; gas chromatography-mass spectrometry; C5DC; glutaryl carnitine; DBS; dried blood spots; m/z; mass charge ratio; HIV; human immunod
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
Keywords: Radiolabeled metabolite; Glutaric aciduria type 1; Mouse model; Metabolite distribution; Glutaryl-CoA dehydrogenase deficiency; Metabolic crisis